Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes

Down syndrome (DS), trisomy of human chromosome 21 (Hsa21), occurs in 1 in 800 live births and is the most common human aneuploidy. DS results in multiple phenotypes, including craniofacial dysmorphology, which is characterised by midfacial hypoplasia, brachycephaly and micrognathia. The genetic and...

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Detalles Bibliográficos
Autores principales: Redhead, Yushi, Gibbins, Dorota, Lana-Elola, Eva, Watson-Scales, Sheona, Dobson, Lisa, Krause, Matthias, Liu, Karen J., Fisher, Elizabeth M. C., Green, Jeremy B. A., Tybulewicz, Victor L. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163349/
https://www.ncbi.nlm.nih.gov/pubmed/37102702
http://dx.doi.org/10.1242/dev.201077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10163349/
https://www.ncbi.nlm.nih.gov/pubmed/37102702
http://dx.doi.org/10.1242/dev.201077

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